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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ZFPM1
zinc finger protein, FOG family member 1
Chromosome 16 · 16q24.2
NCBI Gene: 161882Ensembl: ENSG00000179588.9HGNC: HGNC:19762UniProt: Q8IX07
42PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription corepressor activityprotein bindingRNA polymerase II-specific DNA-binding transcription factor bindingnegative regulation of transcription by RNA polymerase IIneurodegenerative diseasenephrolithiasisbladder calculusVaricose veins
✦AI Summary

ZFPM1 (Friend of GATA1, FOG-1) functions as an essential transcriptional cofactor that regulates erythroid cell differentiation and hematopoiesis by forming heterodimers with GATA family transcription factors 12. The protein acts through direct binding with GATA1, GATA2, and GATA3 to both activate and repress target gene expression in a context-dependent manner 2. During erythropoiesis, ZFPM1 is crucial for progression beyond the proerythroblast stage, and its knockout results in embryonic lethality due to severe anemia 1. The protein regulates cholesterol homeostasis during erythroid differentiation by repressing cholesterol transport genes including ABCA1 and LDLR, and by controlling SREBP2 nuclear levels 1. ZFPM1 also plays roles in cardiac development, as evidenced by its downregulation in cardiac developmental defects and its identification as a Gli target gene in Hedgehog signaling pathways essential for cardiac septation 3. Disease relevance includes associations with adrenocortical carcinoma, where ZFPM1 mutations contribute to oncogenic potential 4, and urticaria pathogenesis through type 2 immune response regulation 5. Additionally, ZFPM1 shows involvement in immune cell regulation, particularly in Th17/Th1/Treg balance in inflammatory conditions 6.

Sources cited
1
ZFPM1 is essential for erythroid differentiation, acts as GATA1 cofactor, and regulates cholesterol homeostasis
PMID: 40048486
2
ZFPM1 forms heterodimers with GATA transcription factors to regulate hemoglobin synthesis
PMID: 23838521
3
ZFPM1 is a Gli target gene involved in cardiac development and septation
PMID: 39894222
4
ZFPM1 mutations are associated with adrenocortical carcinoma oncogenic potential
PMID: 30477734
5
ZFPM1 variants are associated with urticaria through type 2 immune response regulation
PMID: 37430141
6
ZFPM1 is involved in T-cell immune balance regulation in inflammatory conditions
PMID: 40793858
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.52Moderate
nephrolithiasisOpen Targets
0.42Moderate
bladder calculusOpen Targets
0.39Weak
Varicose veinsOpen Targets
0.39Weak
basal cell carcinomaOpen Targets
0.39Weak
seborrheic keratosisOpen Targets
0.38Weak
atrial fibrillationOpen Targets
0.37Weak
type 2 diabetes mellitusOpen Targets
0.37Weak
hypothyroidismOpen Targets
0.36Weak
coronary artery diseaseOpen Targets
0.36Weak
ThromboembolismOpen Targets
0.32Weak
asthmaOpen Targets
0.32Weak
urticariaOpen Targets
0.32Weak
skin cancerOpen Targets
0.31Weak
melanomaOpen Targets
0.31Weak
non-melanoma skin carcinomaOpen Targets
0.31Weak
chronic rhinosinusitisOpen Targets
0.31Weak
HypercholesterolemiaOpen Targets
0.31Weak
positive regulation of ovulationOpen Targets
0.31Weak
venous thromboembolismOpen Targets
0.31Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RUNX1Protein interaction99%RBBP4Protein interaction98%LDB1Protein interaction97%LDB2Protein interaction97%GATA4Protein interaction90%NFE2Protein interaction88%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
70%
Ovary
29%
Lung
22%
Brain
22%
Heart
13%
Gene Interaction Network
Click a node to explore
ZFPM1RUNX1RBBP4LDB1LDB2GATA4NFE2
PROTEIN STRUCTURE
Preparing viewer…
PDB2XU7 · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.11LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.61–1.11]
RankingsWhere ZFPM1 stands among ~20K protein-coding genes
  • #9,963of 20,598
    Most Researched42
  • #11,434of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedZFPM1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A.
PMID: 19056937
Science · 2008
1.00
2
A novel role for Friend of GATA1 (FOG-1) in regulating cholesterol transport in murine erythropoiesis.
PMID: 40048486
PLoS Genet · 2025
0.90
3
Selection at the
PMID: 40875841
Science · 2025
0.80
4
DNA 5-Hydroxymethylcytosine Landscape and Transcriptional Profile Highlight the TUBB4B-Mediated Th17/Th1/Treg Imbalance in Behçet's Uveitis.
PMID: 40793858
Invest Ophthalmol Vis Sci · 2025
0.70
5
A splicing variant in EFCAB7 hinders ciliary transport and disrupts cardiac development.
PMID: 39894222
J Biol Chem · 2025
0.60